ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe)

dbSNP: rs1574095388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001759637 SCV001986569 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000845030 SCV000986865 not provided Donnai-Barrow syndrome no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09/06/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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